Neuroferritinopathy
Neuroferritinopathy (pronounced: neuro-ferritin-opathy) is a rare, inherited, neurodegenerative disease characterized by the accumulation of iron in the brain. It is also known as Ferritin Light Chain Disease or NBIA3 (Neurodegeneration with Brain Iron Accumulation 3).
Etymology
The term "Neuroferritinopathy" is derived from the words "neuro" (relating to the nervous system), "ferritin" (a protein that stores iron), and "pathy" (disease). It was first described in 2001 by Curtis et al.
Symptoms
The symptoms of Neuroferritinopathy typically begin in adulthood and may include dystonia, chorea, parkinsonism, and cognitive decline. The severity and progression of symptoms can vary widely among affected individuals.
Causes
Neuroferritinopathy is caused by mutations in the Ferritin Light Chain (FTL) gene. This gene provides instructions for making a protein that is involved in storing iron in the body. Mutations in the FTL gene lead to a decrease in the ability of the ferritin protein to store iron, resulting in an accumulation of iron in the brain.
Diagnosis
Diagnosis of Neuroferritinopathy is based on the presence of characteristic clinical features, a positive family history, and genetic testing confirming a mutation in the FTL gene.
Treatment
There is currently no cure for Neuroferritinopathy. Treatment is symptomatic and supportive, and may include medications to manage movement disorders and physical therapy to improve mobility and strength.
See also
References
- Curtis, A.R., et al. (2001). Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nature Genetics, 28(4), 350-354.
External links
- Medical encyclopedia article on Neuroferritinopathy
- Wikipedia's article - Neuroferritinopathy
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